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  4. Recombinant Human Transmembrane protein 127 (TMEM127)

Recombinant Human Transmembrane protein 127 (TMEM127)

  • 货号：
    CSB-CF023694HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    TMEM127
  • Uniprot No.：
  • 别名：
    TMEM127; Transmembrane protein 127
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-238
  • 氨基酸序列
    MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGT CSRQELGVSDVLGYVHPDLLKDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKH PALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQHKKYHGSQVYVTFAVSFYLV AGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.
  • 基因功能参考文献：
    1. Of which 4 SDHB and 2 TMEM127 mutations were novel. PMID: 26960314
    2. Hereditary pheochromocytoma / paraganglioma associated with TMEM127 gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations. PMID: 26591561
    3. We report the first case of an individual with both a pheochromocytoma and a multilocular clear cell renal cell carcinoma driven by a novel germline mutation in the TMEM127 gene, with a sibling and 2 sons with the same mutation. PMID: 25800244
    4. Tumor multicentricity, nodular adrenomedullary hyperplasia, and the occurrence of symptoms more than a decade earlier than the age at diagnosis are novel findings in TMEM127-related pheochromocytoma. PMID: 25389632
    5. A male patient with sporadic adrenal pheochromocytoma presents with a novel TMEM127 germline mutation, p. Gln139X. PMID: 23551308
    6. TMEM127 protein localizes in lysosomes in HeLa cells PMID: 21752829
    7. report shows that TMEM127 mutation plays a pathological role in pheochromocytoma in an Asian population. PMID: 22541004
    8. TMEM127 is a novel pheochromocytoma susceptibility gene.[review] PMID: 21447639
    9. TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma. PMID: 21613359
    10. Pathological and genomic data demonstrated that a TMEM127 gene mutation not previously described was causative of a new case of familial bilateral pheochromocytoma. PMID: 20923864
    11. Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms; mutations disrupt intracellular distribution of the FP/TMEM127 protein. PMID: 21156949
    12. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma and identify TMEM127 as a tumor suppressor gene. PMID: 20154675

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  • 相关疾病：
    Pheochromocytoma (PCC)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cytoplasm.
  • 蛋白家族：
    TMEM127 family
  • 组织特异性：
    Widely expressed.
  • 数据库链接：

    HGNC: 26038

    OMIM: 171300

    KEGG: hsa:55654

    STRING: 9606.ENSP00000258439

    UniGene: Hs.164303